Incidental Mutation 'R9404:Ppp2r3d'
ID |
711415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2r3d
|
Ensembl Gene |
ENSMUSG00000093803 |
Gene Name |
protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta |
Synonyms |
Ppp2r3, PR59, Ppp2r3a |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R9404 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101025840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 289
(L289P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066773]
[ENSMUST00000075941]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066773
AA Change: L289P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069688 Gene: ENSMUSG00000043154 AA Change: L289P
Domain | Start | End | E-Value | Type |
Blast:EFh
|
140 |
169 |
1e-9 |
BLAST |
Pfam:EF-hand_7
|
282 |
380 |
2.6e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075941
AA Change: L909P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075327 Gene: ENSMUSG00000043154 AA Change: L909P
Domain | Start | End | E-Value | Type |
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
Blast:EFh
|
760 |
789 |
1e-9 |
BLAST |
Pfam:EF-hand_7
|
902 |
1000 |
2.5e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
T |
C |
4: 106,615,509 (GRCm39) |
K314R |
possibly damaging |
Het |
Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
C |
11: 80,005,064 (GRCm39) |
V1167A |
probably damaging |
Het |
Bbs12 |
T |
C |
3: 37,373,557 (GRCm39) |
S2P |
probably damaging |
Het |
Cdh11 |
A |
T |
8: 103,406,254 (GRCm39) |
L73Q |
probably damaging |
Het |
Cdk15 |
A |
G |
1: 59,328,914 (GRCm39) |
E274G |
possibly damaging |
Het |
Col27a1 |
T |
C |
4: 63,194,178 (GRCm39) |
V845A |
possibly damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,799,258 (GRCm39) |
T310A |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
Ewsr1 |
A |
G |
11: 5,022,940 (GRCm39) |
M388T |
unknown |
Het |
Fat2 |
A |
G |
11: 55,144,348 (GRCm39) |
|
probably null |
Het |
Gm8225 |
T |
A |
17: 26,762,034 (GRCm39) |
I75N |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,919 (GRCm39) |
Y526C |
probably damaging |
Het |
Hk1 |
T |
A |
10: 62,131,859 (GRCm39) |
I203F |
possibly damaging |
Het |
Insl5 |
T |
C |
4: 102,875,535 (GRCm39) |
R72G |
probably benign |
Het |
Iqcb1 |
T |
C |
16: 36,671,632 (GRCm39) |
V321A |
probably damaging |
Het |
Iqcd |
A |
C |
5: 120,738,601 (GRCm39) |
T140P |
|
Het |
Kcnt2 |
T |
A |
1: 140,353,107 (GRCm39) |
I272K |
probably damaging |
Het |
Klhl25 |
A |
C |
7: 75,515,153 (GRCm39) |
I20L |
probably benign |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lrba |
T |
C |
3: 86,205,224 (GRCm39) |
V356A |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,887,933 (GRCm39) |
Y1159H |
probably damaging |
Het |
Mavs |
T |
A |
2: 131,083,818 (GRCm39) |
L105Q |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,348,225 (GRCm39) |
C902S |
|
Het |
Mmp17 |
A |
G |
5: 129,682,741 (GRCm39) |
D460G |
possibly damaging |
Het |
Myh2 |
G |
T |
11: 67,070,454 (GRCm39) |
A466S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,147,788 (GRCm39) |
N2744D |
probably damaging |
Het |
Oga |
CTCGGGTC |
CTC |
19: 45,743,096 (GRCm39) |
|
probably null |
Het |
Or13a26 |
T |
A |
7: 140,284,722 (GRCm39) |
L186H |
probably damaging |
Het |
Or2a12 |
T |
C |
6: 42,904,750 (GRCm39) |
V195A |
probably benign |
Het |
Or2aj4 |
C |
T |
16: 19,384,731 (GRCm39) |
V301M |
probably benign |
Het |
Or4a27 |
T |
A |
2: 88,559,551 (GRCm39) |
M131L |
probably benign |
Het |
Or6d13 |
T |
G |
6: 116,517,708 (GRCm39) |
I98S |
probably damaging |
Het |
Or8g55 |
A |
T |
9: 39,784,708 (GRCm39) |
I46F |
possibly damaging |
Het |
Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
Pax5 |
G |
A |
4: 44,645,565 (GRCm39) |
P255S |
possibly damaging |
Het |
Pcdhga2 |
A |
G |
18: 37,803,067 (GRCm39) |
T304A |
probably benign |
Het |
Pcsk1 |
T |
G |
13: 75,280,342 (GRCm39) |
S722R |
probably benign |
Het |
Pcsk9 |
C |
A |
4: 106,311,723 (GRCm39) |
R218L |
probably damaging |
Het |
Pds5a |
T |
A |
5: 65,776,307 (GRCm39) |
I96F |
probably damaging |
Het |
Pkdrej |
C |
A |
15: 85,703,270 (GRCm39) |
V889L |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,878,468 (GRCm39) |
|
probably null |
Het |
Pnn |
A |
G |
12: 59,118,758 (GRCm39) |
E447G |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,152,753 (GRCm39) |
H298R |
probably benign |
Het |
Ptpn23 |
T |
C |
9: 110,216,025 (GRCm39) |
N1277S |
|
Het |
Pus10 |
T |
A |
11: 23,661,202 (GRCm39) |
F263L |
possibly damaging |
Het |
Rexo5 |
A |
G |
7: 119,400,542 (GRCm39) |
Y109C |
probably damaging |
Het |
Rnf185 |
A |
T |
11: 3,382,615 (GRCm39) |
C23* |
probably null |
Het |
Runx1 |
T |
C |
16: 92,485,915 (GRCm39) |
N140D |
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
Scn9a |
G |
A |
2: 66,357,040 (GRCm39) |
T1087I |
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
TC |
TCAGCCACGGGGACCAGCCC |
7: 126,066,771 (GRCm39) |
|
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,335,488 (GRCm39) |
H350R |
possibly damaging |
Het |
Spaca6 |
T |
C |
17: 18,057,800 (GRCm39) |
C155R |
probably damaging |
Het |
Spire2 |
C |
T |
8: 124,090,077 (GRCm39) |
R580* |
probably null |
Het |
Srgap3 |
A |
T |
6: 112,706,616 (GRCm39) |
M851K |
probably benign |
Het |
Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
Tlcd4 |
T |
C |
3: 121,028,731 (GRCm39) |
N52S |
probably benign |
Het |
Trak2 |
T |
C |
1: 58,960,296 (GRCm39) |
T236A |
possibly damaging |
Het |
Trrap |
T |
C |
5: 144,752,225 (GRCm39) |
C1709R |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,584,500 (GRCm39) |
S22203T |
probably damaging |
Het |
Tut7 |
A |
T |
13: 59,947,701 (GRCm39) |
N873K |
probably benign |
Het |
Ube3a |
A |
G |
7: 58,936,763 (GRCm39) |
T701A |
probably damaging |
Het |
Ufl1 |
T |
C |
4: 25,275,912 (GRCm39) |
I164V |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,817,856 (GRCm39) |
T176A |
probably damaging |
Het |
Virma |
T |
A |
4: 11,513,626 (GRCm39) |
D493E |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,451,247 (GRCm39) |
W378R |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,876,565 (GRCm39) |
T2799S |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,426,927 (GRCm39) |
S1337P |
probably benign |
Het |
Zfp235 |
A |
T |
7: 23,839,862 (GRCm39) |
I94F |
possibly damaging |
Het |
Zfp3 |
A |
G |
11: 70,663,366 (GRCm39) |
K442E |
probably damaging |
Het |
Zfp418 |
A |
T |
7: 7,185,104 (GRCm39) |
I356F |
possibly damaging |
Het |
Zfp790 |
G |
A |
7: 29,525,185 (GRCm39) |
G68S |
probably benign |
Het |
|
Other mutations in Ppp2r3d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Ppp2r3d
|
APN |
9 |
101,088,500 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01122:Ppp2r3d
|
APN |
9 |
101,088,844 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02332:Ppp2r3d
|
APN |
9 |
101,057,602 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02653:Ppp2r3d
|
APN |
9 |
101,088,892 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03329:Ppp2r3d
|
APN |
9 |
101,003,630 (GRCm39) |
splice site |
probably benign |
|
IGL03351:Ppp2r3d
|
APN |
9 |
101,088,391 (GRCm39) |
missense |
probably benign |
0.00 |
lank
|
UTSW |
9 |
101,075,829 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4480001:Ppp2r3d
|
UTSW |
9 |
101,003,576 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4687001:Ppp2r3d
|
UTSW |
9 |
101,021,579 (GRCm39) |
missense |
probably benign |
0.00 |
R0243:Ppp2r3d
|
UTSW |
9 |
101,089,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R1004:Ppp2r3d
|
UTSW |
9 |
101,075,829 (GRCm39) |
critical splice donor site |
probably null |
|
R1086:Ppp2r3d
|
UTSW |
9 |
101,031,021 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1215:Ppp2r3d
|
UTSW |
9 |
101,089,883 (GRCm39) |
missense |
probably benign |
0.02 |
R1245:Ppp2r3d
|
UTSW |
9 |
101,071,593 (GRCm39) |
missense |
probably damaging |
0.99 |
R1458:Ppp2r3d
|
UTSW |
9 |
101,088,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R1682:Ppp2r3d
|
UTSW |
9 |
101,089,505 (GRCm39) |
missense |
probably benign |
0.00 |
R1857:Ppp2r3d
|
UTSW |
9 |
101,090,092 (GRCm39) |
missense |
probably damaging |
0.96 |
R1972:Ppp2r3d
|
UTSW |
9 |
101,088,976 (GRCm39) |
missense |
probably benign |
0.00 |
R2029:Ppp2r3d
|
UTSW |
9 |
101,022,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R2076:Ppp2r3d
|
UTSW |
9 |
101,021,570 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2135:Ppp2r3d
|
UTSW |
9 |
101,088,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R2180:Ppp2r3d
|
UTSW |
9 |
101,004,214 (GRCm39) |
nonsense |
probably null |
|
R3155:Ppp2r3d
|
UTSW |
9 |
101,089,559 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4190:Ppp2r3d
|
UTSW |
9 |
124,424,123 (GRCm38) |
unclassified |
probably benign |
|
R4657:Ppp2r3d
|
UTSW |
9 |
124,476,821 (GRCm38) |
missense |
unknown |
|
R4797:Ppp2r3d
|
UTSW |
9 |
101,089,179 (GRCm39) |
missense |
probably benign |
0.01 |
R4829:Ppp2r3d
|
UTSW |
9 |
101,089,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5269:Ppp2r3d
|
UTSW |
9 |
101,031,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R5498:Ppp2r3d
|
UTSW |
9 |
124,439,123 (GRCm38) |
unclassified |
probably benign |
|
R5820:Ppp2r3d
|
UTSW |
9 |
124,422,765 (GRCm38) |
missense |
possibly damaging |
0.90 |
R5917:Ppp2r3d
|
UTSW |
9 |
101,089,183 (GRCm39) |
missense |
probably benign |
0.10 |
R5939:Ppp2r3d
|
UTSW |
9 |
101,089,824 (GRCm39) |
missense |
probably benign |
0.37 |
R6089:Ppp2r3d
|
UTSW |
9 |
101,088,835 (GRCm39) |
missense |
probably benign |
0.00 |
R6254:Ppp2r3d
|
UTSW |
9 |
101,025,786 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6574:Ppp2r3d
|
UTSW |
9 |
101,071,584 (GRCm39) |
missense |
probably benign |
0.03 |
R6776:Ppp2r3d
|
UTSW |
9 |
101,090,061 (GRCm39) |
missense |
probably benign |
0.00 |
R6823:Ppp2r3d
|
UTSW |
9 |
124,439,078 (GRCm38) |
unclassified |
probably benign |
|
R6927:Ppp2r3d
|
UTSW |
9 |
101,052,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Ppp2r3d
|
UTSW |
9 |
124,439,080 (GRCm38) |
nonsense |
probably null |
|
R7162:Ppp2r3d
|
UTSW |
9 |
124,439,673 (GRCm38) |
missense |
|
|
R7189:Ppp2r3d
|
UTSW |
9 |
101,003,621 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7190:Ppp2r3d
|
UTSW |
9 |
101,089,726 (GRCm39) |
missense |
probably benign |
0.11 |
R7288:Ppp2r3d
|
UTSW |
9 |
101,004,203 (GRCm39) |
missense |
probably damaging |
0.98 |
R7292:Ppp2r3d
|
UTSW |
9 |
101,089,871 (GRCm39) |
missense |
probably damaging |
0.96 |
R7512:Ppp2r3d
|
UTSW |
9 |
101,052,532 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7655:Ppp2r3d
|
UTSW |
9 |
101,088,911 (GRCm39) |
missense |
probably benign |
0.30 |
R7656:Ppp2r3d
|
UTSW |
9 |
101,088,911 (GRCm39) |
missense |
probably benign |
0.30 |
R7661:Ppp2r3d
|
UTSW |
9 |
124,442,696 (GRCm38) |
missense |
|
|
R7666:Ppp2r3d
|
UTSW |
9 |
124,440,873 (GRCm38) |
missense |
probably damaging |
1.00 |
R7769:Ppp2r3d
|
UTSW |
9 |
124,439,087 (GRCm38) |
missense |
|
|
R8174:Ppp2r3d
|
UTSW |
9 |
101,090,501 (GRCm39) |
start gained |
probably benign |
|
R8195:Ppp2r3d
|
UTSW |
9 |
101,090,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Ppp2r3d
|
UTSW |
9 |
124,440,067 (GRCm38) |
missense |
|
|
R8344:Ppp2r3d
|
UTSW |
9 |
101,088,985 (GRCm39) |
missense |
probably benign |
0.03 |
R8505:Ppp2r3d
|
UTSW |
9 |
124,439,084 (GRCm38) |
missense |
|
|
R8720:Ppp2r3d
|
UTSW |
9 |
101,089,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R8765:Ppp2r3d
|
UTSW |
9 |
124,439,649 (GRCm38) |
missense |
|
|
R8775:Ppp2r3d
|
UTSW |
9 |
101,004,204 (GRCm39) |
missense |
probably benign |
0.00 |
R8775-TAIL:Ppp2r3d
|
UTSW |
9 |
101,004,204 (GRCm39) |
missense |
probably benign |
0.00 |
R8853:Ppp2r3d
|
UTSW |
9 |
101,090,110 (GRCm39) |
missense |
probably benign |
0.05 |
R8958:Ppp2r3d
|
UTSW |
9 |
101,088,634 (GRCm39) |
missense |
probably benign |
|
R9069:Ppp2r3d
|
UTSW |
9 |
101,090,006 (GRCm39) |
missense |
probably benign |
0.02 |
R9210:Ppp2r3d
|
UTSW |
9 |
101,063,175 (GRCm39) |
missense |
probably benign |
0.09 |
R9212:Ppp2r3d
|
UTSW |
9 |
101,063,175 (GRCm39) |
missense |
probably benign |
0.09 |
R9300:Ppp2r3d
|
UTSW |
9 |
124,423,977 (GRCm38) |
missense |
unknown |
|
R9465:Ppp2r3d
|
UTSW |
9 |
124,442,222 (GRCm38) |
missense |
|
|
R9477:Ppp2r3d
|
UTSW |
9 |
124,476,857 (GRCm38) |
missense |
|
|
R9538:Ppp2r3d
|
UTSW |
9 |
124,424,007 (GRCm38) |
missense |
unknown |
|
R9545:Ppp2r3d
|
UTSW |
9 |
101,089,214 (GRCm39) |
missense |
probably benign |
|
R9639:Ppp2r3d
|
UTSW |
9 |
101,022,713 (GRCm39) |
missense |
probably benign |
|
R9649:Ppp2r3d
|
UTSW |
9 |
124,440,831 (GRCm38) |
missense |
|
|
X0020:Ppp2r3d
|
UTSW |
9 |
101,089,238 (GRCm39) |
missense |
probably benign |
0.19 |
Z1176:Ppp2r3d
|
UTSW |
9 |
101,003,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1177:Ppp2r3d
|
UTSW |
9 |
124,476,815 (GRCm38) |
missense |
unknown |
|
Z1177:Ppp2r3d
|
UTSW |
9 |
124,422,692 (GRCm38) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTATTTACTTACCTCCAAACACC -3'
(R):5'- TTCCTGGCTTGGTACCAAAATC -3'
Sequencing Primer
(F):5'- GGCATGGTGGCACATACCTTTAATC -3'
(R):5'- CCTGGTCTACAAAGTAAGTTCCAGG -3'
|
Posted On |
2022-05-16 |